2023 Fiscal Year Final Research Report

The genetic analysis and underlying function of the endoplasmic reticulum membrane protein targeting inherited arrhythmogenic syndromes

Research Project

PDF

Project/Area Number	20K08473
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Review Section	Basic Section 53020:Cardiology-related
Research Institution	Hiroshima University
Principal Investigator	Itoh Hideki 広島大学, 病院(医), 教授 (30402738)
Co-Investigator(Kenkyū-buntansha)	竹島浩京都大学, 薬学研究科, 教授 (70212024) 加藤浩一滋賀医科大学, 医学部, 助教 (70736983) 堀江稔滋賀医科大学, NCD疫学研究センター, 特任教授 (90183938)
Project Period (FY)	2020-04-01 – 2024-03-31
Keywords	リアノジン受容体 / 心室細動 / シミュレーション
Outline of Final Research Achievements	Among patients with idiopathic ventricular fibrillation, we focused on the analysis of genes corresponding to Ca dynamics. The target sequence using the next-generation sequencing failed to reveal the genetic background in our cohort. Regarding the simulation study in silico, the current through Na/Ca exchanger reduced in the submembrane while this current increased in the myoplasm. This result was similar to that of a study using iPS which had been reported in the previous article.
Free Research Field	循環器内科
Academic Significance and Societal Importance of the Research Achievements	細胞内Caダイナミクスに関与すると考えられる蛋白群の遺伝子変異は同定されなかったが、今後は細胞内Caダイナミクスに関連しない遺伝子も網羅的に調べることが必要である。本疾患の治療薬を考える上で、Na/Ca交換体に対するアプローチが有用であることが示唆された。